目前,國內(nèi)外雖然有CTLA-4基因多態(tài)性與多種自身免疫性疾病之間相關(guān)關(guān)系研究的報道,但所顯示的結(jié)果并不完全一致,其原因可能是因為存在種族、地區(qū)、遺傳背景的差異所導(dǎo)致。如Yanagawa等[6]報道美國白種GD病人與CTLA-4多態(tài)性有較少的相關(guān)性,而在德國、加拿大及韓國人群中啟動子多態(tài)性與GD顯著相關(guān)[7,8]。國內(nèi)周文旭等[9]研究發(fā)現(xiàn)CTLA-4基因啟動子318(C/T)的多態(tài)性與GD的相關(guān)性是由于其與外顯子1連鎖不平衡,因此它是GD的一個遺傳危險標志,但不具有獨立易感作用。本研究結(jié)果顯示GD組與正常對照組的基因型及等位基因頻率相比較差異均無統(tǒng)計學(xué)意義,提示CTLA-4基因啟動子318位點基因多態(tài)性與寧夏人群GD無明顯關(guān)聯(lián)。醫(yī).學(xué).全.在.線m.52667788.cn
CTLA-4是一種具有高度多態(tài)性的基因,我們在后續(xù)研究中,需進一步增加研究病例數(shù),在基因、蛋白的表達和功能等方面進行更深入研究,以揭示此位點突變對GD作用和致病機理。同時,還要對CTLA-4基因的其他位點進行研究,從而揭示CTLA-4基因與GD發(fā)病及地域和民族之間的關(guān)聯(lián)性。
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